Publications
Journal Article (51)
1.
Journal Article
88 (1), pp. 70 - 75 (2011)
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics 2.
Journal Article
147 (3), pp. 466 - 8 (2011)
Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease. Int J Cardiol 3.
Journal Article
89 (1), pp. 15 - 27 (2011)
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 4.
Journal Article
27 (13), pp. 1882 - 3 (2011)
Model-based gene set analysis for Bioconductor. Bioinformatics 5.
Journal Article
118 (20), pp. 5583 - 92 (2011)
Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts. Blood 6.
Journal Article
54 (3), pp. 256 - 61 (2011)
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet 7.
Journal Article
20 (2), p. 192 (2011)
SAFE handovers in obstetric anaesthesia. Int J Obstet Anesth 8.
Journal Article
9 (1), p. e1000582 (2011)
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol 9.
Journal Article
9 (1), p. e1000582 (2011)
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biology 10.
Journal Article
12, p. 106 (2011)
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 11.
Journal Article
6 (5), p. e20138 (2011)
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. PLoS ONE 12.
Journal Article
155A (12), pp. 3075 - 81 (2011)
Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings. Am J Med Genet A 13.
Journal Article
12 (3), pp. 169 - 73 (2011)
Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 14.
Journal Article
12 (3), pp. 169 - 73 (2011)
Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 15.
Journal Article
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res (2011)
16.
Journal Article
155A (4), pp. 721 - 4 (2011)
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A 17.
Journal Article
5 (2), pp. 224 - 9 (2011)
Minimum Information about a Genotyping Experiment (MIGEN). Stand Genomic Sci 18.
Journal Article
12, p. 158 (2011)
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics 19.
Journal Article
54 (3), pp. 301 - 5 (2011)
The face of Ulnar Mammary syndrome? Eur J Med Genet 20.
Journal Article
173 (2), pp. 303 - 11 (2011)
The organization of the osteocyte network mirrors the extracellular matrix orientation in bone. J Struct Biol